Novel insertional mutation in the bone morphogenetic protein receptor type II associated with sporadic primary pulmonary hypertension.
Novel insertional mutation in the bone morphogenetic protein receptor type II associated with sporadic primary pulmonary hypertension.
复制标题
DOI：
10.1253/circj.68.592
复制
发表时间：
2004-05
期刊：
影响因子：
--
通讯作者：
Shoko Sugiyama;H. Hirota;Maki Yoshida;Y. Takemura;Y. Nakaoka;Yuichi Oshima;K. Terai;M. Izumi;Y. Fujio;S. Hasegawa;T. Mano;Y. Nakatsuchi;M. Hori;K. Yamauchi-Takihara;I. Kawase
中科院分区：
文献类型：
--
作者：
Shoko Sugiyama;H. Hirota;Maki Yoshida;Y. Takemura;Y. Nakaoka;Yuichi Oshima;K. Terai;M. Izumi;Y. Fujio;S. Hasegawa;T. Mano;Y. Nakatsuchi;M. Hori;K. Yamauchi-Takihara;I. Kawase
原发性肺动脉高压（PPH）是由小肺动脉阻塞引起的，是一种毁灭性的疾病。骨形态发生蛋白受体II型基因（BMPR 2）是转化生长因子-β（TGF-β）家族的一个组成部分，在细胞生长中起关键作用，最近已被确定为引起家族性和散发性PPH。在日本发现的第一例BMPR 2突变病例报告于一名19岁女性，临床诊断为PPH，无可识别的肺动脉高压家族史。对BMPR 2的整个编码区和内含子/外显子边界的直接测序揭示了预测改变细胞对特定配体的信号传导反应的移码突变。PPH的分子分类，基于BMPR 2突变的存在或不存在，可能对患者管理和亲属筛查有重要意义。
Primary pulmonary hypertension (PPH), which results from occlusion of small pulmonary arteries, is a devastating condition. Mutations of the bone morphogenetic protein receptor type II gene (BMPR2), a component of the transforming growth factor- beta (TGF-beta) family, which plays a key role in cell growth, have recently been identified as causing familial and sporadic PPH. The first case of BMPR2 mutation found in Japan is reported here in a 19-year-old woman with a clinical diagnosis of PPH and no identifiable family history of pulmonary hypertension. Direct sequencing of the entire coding region and intron/exon boundaries of BMPR2 revealed a frameshift mutation predicted to alter the cell signaling response to specific ligands. A molecular classification of PPH, based upon the presence or absence of BMPR2 mutations, might have important implications for patient management and screening of relatives.